| 释义 |
- Function
- Clinical significance
- References
- Further reading
{{Infobox_gene}}Translocation protein SEC63 homolog is a protein that in humans is encoded by the SEC63 gene.[1][2][3] Function The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER.[3] Clinical significance Mutations of this gene have been linked with autosomal dominant polycystic liver disease.[4] References1. ^{{cite journal | vauthors = Woollatt E, Pine KA, Shine J, Sutherland GR, Iismaa TP | title = Human Sec63 endoplasmic reticulum membrane protein, map position 6q21 | journal = Chromosome Res | volume = 7 | issue = 1 | pages = 77 |date=Jun 1999 | pmid = 10219736 | pmc = | doi =10.1023/A:1009283530544 }}
2. ^{{cite journal | vauthors = Skowronek MH, Rotter M, Haas IG | title = Molecular characterization of a novel mammalian DnaJ-like Sec63p homolog | journal = Biol Chem | volume = 380 | issue = 9 | pages = 1133–8 |date=Nov 1999 | pmid = 10543453 | pmc = | doi = 10.1515/BC.1999.142 }}
3. ^1 {{cite web | title = Entrez Gene: SEC63 SEC63 homolog (S. cerevisiae)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11231| accessdate = }}
4. ^{{cite journal | vauthors = Davila S, Furu L, Gharavi AG, Tian X, Onoe T, Qian Q, Li A, Cai Y, Kamath PS, King BF, Azurmendi PJ, Tahvanainen P, Kääriäinen H, Höckerstedt K, Devuyst O, Pirson Y, Martin RS, Lifton RP, Tahvanainen E, Torres VE, Somlo S | title = Mutations in SEC63 cause autosomal dominant polycystic liver disease | journal = Nat. Genet. | volume = 36 | issue = 6 | pages = 575–7 |date=June 2004 | pmid = 15133510 | doi = 10.1038/ng1357 }}
Further reading{{refbegin | 2}}- {{cite journal |vauthors=Meyer HA, Grau H, Kraft R, etal |title=Mammalian Sec61 is associated with Sec62 and Sec63. |journal=J. Biol. Chem. |volume=275 |issue= 19 |pages= 14550–7 |year= 2000 |pmid= 10799540 |doi=10.1074/jbc.275.19.14550 }}
- {{cite journal | author=Ponting CP |title=Proteins of the endoplasmic-reticulum-associated degradation pathway: domain detection and function prediction. | series=351 |journal=Biochem. J. |volume=Pt 2 |issue= |pages= 527–35 |year= 2001 |pmid= 11023840 |doi= | pmc=1221390 }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
- {{cite journal |vauthors=Davila S, Furu L, Gharavi AG, etal |title=Mutations in SEC63 cause autosomal dominant polycystic liver disease. |journal=Nat. Genet. |volume=36 |issue= 6 |pages= 575–7 |year= 2004 |pmid= 15133510 |doi= 10.1038/ng1357 }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
- {{cite journal |vauthors=Otsuki T, Ota T, Nishikawa T, etal |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. |journal=DNA Res. |volume=12 |issue= 2 |pages= 117–26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 }}
- {{cite journal |vauthors=Ewing RM, Chu P, Elisma F, etal |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue= 1|pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 | pmc=1847948 }}
- {{cite journal |vauthors=You KT, Li LS, Kim NG, etal |title=Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumors. |journal=PLoS Biol. |volume=5 |issue= 5 |pages= e109 |year= 2007 |pmid= 17456004 |doi= 10.1371/journal.pbio.0050109 | pmc=1854916 }}
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